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Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development
birth defects developmental defects embryo folic acid high folate methylenetetrahydrofolate reductase MTHFD1 placenta
2018/12/19
Background: Moderately high folic acid intake in pregnant women has led to concerns about deleterious effects on the mother and fetus. Common polymorphisms in folate genes, such as methylenetetrahydro...
Faulty bioelectric signal responsible for facial defects caused by rare genetic disorder
Faulty bioelectric signal facial defects genetic disorder
2016/2/23
Tufts University biologists have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to prevent...
Dissecting the cellular and molecular mechanisms mediating neurofibromatosis type 1 related bone defects
Mouse model Osteoclasts Transforming growth factor-beta1
2015/5/21
Skeletal manifestations including short stature, osteoporosis, kyphoscoliosis, and tibial dysplasia cumulatively affect approximately 70% of patients with neurofibromatosis type 1 (NF1). Tibial pseuda...
妊娠合并糖尿病诱发胚胎先天性神经管缺陷动物模型的MAP 激酶信号传导机制MAP Kinase Signal Pathway in Hyperglycemia-induced Congenital Neural tube defects
神经管缺陷 糖尿病 激酶 ERK JNK/SAPK RAF-1 动物模型
2008/1/20
摘要
为了揭示妊娠合并糖尿病诱发胚胎先天性神经管缺陷的分子机制，并探讨其有效的防治方法。 实验选用6个实验组的 Sprague-Dawley 大鼠：第1组为常规饲养的正常对照组；第2组尾静脉注射65mg/kg Streptozotocin (STZ) 构建妊娠合并糖尿病、且诱发先天性神经管缺陷的实验组大鼠；第3组为STZ构建的糖尿病、但胚胎不伴有先天性神经管缺陷的大鼠模型；第4、5、6 组为 S...
还原叶酸载体基因（RFC1）与神经管和颅面畸形病因学关系的研究进展 Advances in the Study of the Etiologic Relationship between Reduced Folate Carrier Gene(RFC1) and Neural Tube and Craniofacial Defects
还原叶酸载体基因 神经管和颅面畸形 叶酸 基因多态性
2008/1/10
摘要神经管畸形和颅面畸形是最常见的出生缺陷，由遗传和环境因素共同作用所致，大规模的人群流行病学研究已证实，叶酸能降低发生这类畸形的危险。叶酸缺乏是神经管和颅面畸形发生的主要环境因素，但其机制尚不清楚，通过对与叶酸代谢有关的还原叶酸载体（reduced folate carrier,RFC）的生化特点、生理功能、还原叶酸载体基因（RFC1）结构功能、调控、表达及其与叶酸水平和神经管颅面畸形的关系等研...